ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) (rs141032388)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313379 SCV000358775 likely benign Distal spinal muscular atrophy, autosomal recessive 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001083174 SCV000646048 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2020-12-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761631 SCV000891801 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284857 SCV001470950 uncertain significance none provided 2020-07-30 criteria provided, single submitter clinical testing The PLEKHG5 c.307G>A; p.Val103Met variant (rs141032388), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 245660). This variant is found in the general population with an allele frequency of 0.19% (531/281,480 alleles) in the Genome Aggregation Database. The valine at codon 103 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time.

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